ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915989123
Gene: AP4S1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009008.2:p.Tyr52His
CA7144182
NM_007077.5:c.154T>C